针对女性基于风险的乳腺癌查的综合遗传风险估计
Nina Mars1,2, Sini Kerminen1, Max Tamlander1
1Institute for Molecular Medicine Finland, FIMM, HiLIFE, University of Helsinki, Helsinki, Finland.
概括
一个新的多基因风险评分 (PRS) 有效地分层了乳腺癌风险,可与家族病史和致病变体相比较. 这种PRS可以指导个性化查策略,以改善乳腺癌检测和风险管理.
科学领域:
- 遗传学和基因组学 遗传学和基因组学
- 在瘤学瘤学.
- 公共卫生 公共卫生
背景情况:
- 家庭病史 (FH) 和致病变体 (PVs) 是已确定的乳腺癌风险因素,用于有针对性的监测.
- 多基因风险评分 (PRS) 整合了常见的遗传变异来分层乳腺癌风险.
- 在人口层面上,PRS对乳腺癌查的影响仍未得到充分研究.
研究的目的:
- 评估乳腺癌PRS在人口层面查中的风险分层的表现.
- 将PRS的有效性与FH和PVs等传统风险因素进行比较.
- 评估PRS在指导个性化乳腺癌查策略方面的潜力.
主要方法:
- 利用了来自FinnGen研究 (N=117,252) 的纵向真实数据.
- 与芬兰乳腺癌大规模查登记处 (1992-2019) 链接遗传数据.
- 在中度 (CHEK2) 和高风险 (PALB2) 基因中评估乳腺癌PRS对FH和PV的性能.
主要成果:
- 高PRS (>第90百分位) 显示了与FH和PVs相似的风险分层,影响查开始年龄.
- 一个高的PRS确定了女性的乳腺癌查后更高的可能性 (PPV39.5%).
- 风险因素的组合改善了PPV的45-50%;高PRS增加了间隔乳腺癌的风险 (HR 2.48-2.78).
结论:
- 乳腺癌PRS在风险分层方面表现出有效性,无论是独立的还是与FH和PVs结合的.
- PRS可以增强个性化乳腺癌查计划.
- 需要进一步的前性研究来确认成本效益和优化实施.
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